| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1464T>A | p.Cys488X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TGA | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Disulfide bonds 476-488 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP07TOK F0002 I0001 | Proband | Male | familial | 6 years old | 29 years old | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Age |
| C-Asc. aortic dilatation | 29 |
| C-Mitral valve prolapse | 13 |
| CF-Hypertelorism | |
| O-Myopia | 13 |
| S-Arachnodactyly (M) | 6 |
| S-Joint hypermobility (m) | 6 |
| S-Pectus carinatum (M)(2) | 29 |
| S-Scoliosis > 20° (M)(1) | 6 |
| S-Scoliosis > 20° (M)(1) | 29 |
| Reference ID | PubMed ID | Reference |
| 187 | 19725129 | Tang S, Hoshida H, Kamisago M, Yagi H, Momma K, Matsuoka R. "Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes". Am J Med Genet A. 2009 Oct;149A(10):2216-9. |